GENE REFERENCE / HGNC:218

ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2

protein-coding gene5q35.3Gene information

What does this gene do?

The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells that add strength, support, and stretchiness (elasticity) to many body tissues. The ADAMTS2 enzyme cuts a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-11.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,173
Submissions for variants in or overlapping this gene: 3,773
Submissions explicitly reporting this gene: 3,686
Alleles reported pathogenic / likely pathogenic: 346
VariationIDs with uncertain significance: 727
VariationIDs with conflicting classifications: 111

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ADAMTS2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 346 alleles in ADAMTS2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ADAMTS2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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